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MSH2 (Lynch Syndrome): Cancer Treatment

Learn about personalized treatment options for people with Lynch syndrome due to an MSH2 mutation. Stay up to date by signing up for our community newsletter.
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Cancer Treatment for People with Inherited Mutations

Testing positive for an inherited mutation may affect your treatment options or eligibility for clinical trials studying which treatments work best. To learn more about standard of care treatment options for specific types of cancer, visit our section on Cancer Treatment by Cancer Type. People with an mutation who have been diagnosed with cancer may benefit from testing and may qualify for clinical trials looking for more effective treatments for cancer.

The following are examples of situations where an mutation may play a part in treatment decision-making. 


treatment

Most cancers in people with an inherited mutation will have a tumor  known as " or "MSI-H" (). This  indicates that the tumor has a feature known as "," which is also known by the abbreviations or . Testing tumors for  or can be important, because these tumors are more likely to respond to  agents known as immune checkpoint inhibitors

MSI-H colorectal cancer

  • In people with 2 colorectal cancer, MSI-H cancers have a good prognosis and may not benefit from 5-flourouracil (chemotherapy used in colorectal cancer) therapy. 
  • People with 2 or 3 rectal cancer that is MSI-H, may benefit from treatment (before surgery) with Jemperli (dostarlimab).

Advanced MSI-H colorectal cancer

  • Jemperli (dostarlimab) may be used to treat MSI-H or advanced colorectal cancer in people whose cancer got worse after chemotherapy.  
  • Keytruda (pembrolizumab) is an immune checkpoint inhibitor used to treat  or advanced colorectal cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan.
  • Opdivo (nivolumab) is an immune checkpoint inhibitor used alone or in combination with Yervoy (ipilimumab) for cancer that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan.

endometrial cancer

  • Infimzi (durvalumab) is an that is approved in combination with chemotherapy to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.
  • Jemperli (dostarlimab) is an that is approved to treat recurrent and advanced endometrial cancer that is mismatch repair-deficient.
  • Keytruda (pembrolizumab) is an that is approved to treat MSI-H or advanced or recurrent endometrial cancer that came back or got worse after previous treatment and for which there are no other treatment options.

Immune checkpoint inhibitors for treating any type of advanced MSI-H cancer

  • Keytruda (pembrolizumab) is approved for the treatment of any that test MSI-H, have progressed after treatment and for which there are no other treatment options.

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Alive and Kick'n

Alive and Kick'n has information and resources for people living with Lynch syndrome.

CCARE Lynch Syndrome

Colon Cancer Alliance for Research and Education raises awareness and helps fund research for Lynch syndrome.

Mayberry Memorial

Mayberry Memorial pays for high-risk people to receive genetic counseling and genetic testing for Lynch syndrome.
Last updated August 29, 2024